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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HDAC8
(T119M)
Single nucleotide variant
(missense variant +1 more)
Cornelia de Lange syndrome 5
GPathogenic
AMER1, AMMECR1
+541 more
Indel
Heterotaxy, visceral, 1, X-linked
GPathogenic